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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 2
2003 1
2004 2
2005 2
2006 3
2007 4
2008 5
2009 6
2010 7
2011 4
2012 2
2013 3
2015 7
2016 3
2017 1
2018 1
2019 1
2020 1
2021 2
2022 1
2024 0

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49 results

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Page 1
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
Najmabadi H, Hu H, Garshasbi M, Zemojtel T, Abedini SS, Chen W, Hosseini M, Behjati F, Haas S, Jamali P, Zecha A, Mohseni M, Püttmann L, Vahid LN, Jensen C, Moheb LA, Bienek M, Larti F, Mueller I, Weissmann R, Darvish H, Wrogemann K, Hadavi V, Lipkowitz B, Esmaeeli-Nieh S, Wieczorek D, Kariminejad R, Firouzabadi SG, Cohen M, Fattahi Z, Rost I, Mojahedi F, Hertzberg C, Dehghan A, Rajab A, Banavandi MJ, Hoffer J, Falah M, Musante L, Kalscheuer V, Ullmann R, Kuss AW, Tzschach A, Kahrizi K, Ropers HH. Najmabadi H, et al. Among authors: rajab a. Nature. 2011 Sep 21;478(7367):57-63. doi: 10.1038/nature10423. Nature. 2011. PMID: 21937992
Author Correction: Mutations in PYCR1 cause cutis laxa with progeroid features.
Reversade B, Escande-Beillard N, Dimopoulou A, Fischer B, Chng SC, Li Y, Shboul M, Tham PY, Kayserili H, Al-Gazali L, Shahwan M, Brancati F, Lee H, O'Connor BD, Kegler MS, Merriman B, Nelson SF, Masri A, Alkazaleh F, Guerra D, Ferrari P, Nanda A, Rajab A, Markie D, Gray M, Nelson J, Grix A, Sommer A, Savarirayan R, Janecke AR, Steichen E, Sillence D, Haußer I, Budde B, Nürnberg G, Nürnberg P, Seemann P, Kunkel D, Zambruno G, Dallapiccola B, Schuelke M, Robertson S, Hamamy H, Wollnik B, Van Maldergem L, Mundlos S, Kornak U. Reversade B, et al. Among authors: rajab a. Nat Genet. 2022 Feb;54(2):213. doi: 10.1038/s41588-022-01013-2. Nat Genet. 2022. PMID: 35064218 Free article. No abstract available.
DALIA- a comprehensive resource of Disease Alleles in Arab population.
Vatsyayan A, Sharma P, Gupta S, Sandhu S, Venu SL, Sharma V, Badaoui B, Azedine K, Youssef S, Rajab A, Fayez A, Madinur S, Ranawat A, Pandhare K, Ramachandran S, Sivasubbu S, Scaria V. Vatsyayan A, et al. Among authors: rajab a. PLoS One. 2021 Jan 13;16(1):e0244567. doi: 10.1371/journal.pone.0244567. eCollection 2021. PLoS One. 2021. PMID: 33439861 Free PMC article.
High-throughput sequencing of microdissected chromosomal regions.
Weise A, Timmermann B, Grabherr M, Werber M, Heyn P, Kosyakova N, Liehr T, Neitzel H, Konrat K, Bommer C, Dietrich C, Rajab A, Reinhardt R, Mundlos S, Lindner TH, Hoffmann K. Weise A, et al. Among authors: rajab a. Eur J Hum Genet. 2010 Apr;18(4):457-62. doi: 10.1038/ejhg.2009.196. Epub 2009 Nov 4. Eur J Hum Genet. 2010. PMID: 19888302 Free PMC article.
Loss of PCLO function underlies pontocerebellar hypoplasia type III.
Ahmed MY, Chioza BA, Rajab A, Schmitz-Abe K, Al-Khayat A, Al-Turki S, Baple EL, Patton MA, Al-Memar AY, Hurles ME, Partlow JN, Hill RS, Evrony GD, Servattalab S, Markianos K, Walsh CA, Crosby AH, Mochida GH. Ahmed MY, et al. Among authors: rajab a. Neurology. 2015 Apr 28;84(17):1745-50. doi: 10.1212/WNL.0000000000001523. Epub 2015 Apr 1. Neurology. 2015. PMID: 25832664 Free PMC article.
Evolutionarily assembled cis-regulatory module at a human ciliopathy locus.
Lee JH, Silhavy JL, Lee JE, Al-Gazali L, Thomas S, Davis EE, Bielas SL, Hill KJ, Iannicelli M, Brancati F, Gabriel SB, Russ C, Logan CV, Sharif SM, Bennett CP, Abe M, Hildebrandt F, Diplas BH, Attié-Bitach T, Katsanis N, Rajab A, Koul R, Sztriha L, Waters ER, Ferro-Novick S, Woods CG, Johnson CA, Valente EM, Zaki MS, Gleeson JG. Lee JH, et al. Among authors: rajab a. Science. 2012 Feb 24;335(6071):966-9. doi: 10.1126/science.1213506. Epub 2012 Jan 26. Science. 2012. PMID: 22282472 Free PMC article.
PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment.
Zollo M, Ahmed M, Ferrucci V, Salpietro V, Asadzadeh F, Carotenuto M, Maroofian R, Al-Amri A, Singh R, Scognamiglio I, Mojarrad M, Musella L, Duilio A, Di Somma A, Karaca E, Rajab A, Al-Khayat A, Mohan Mohapatra T, Eslahi A, Ashrafzadeh F, Rawlins LE, Prasad R, Gupta R, Kumari P, Srivastava M, Cozzolino F, Kumar Rai S, Monti M, Harlalka GV, Simpson MA, Rich P, Al-Salmi F, Patton MA, Chioza BA, Efthymiou S, Granata F, Di Rosa G, Wiethoff S, Borgione E, Scuderi C, Mankad K, Hanna MG, Pucci P, Houlden H, Lupski JR, Crosby AH, Baple EL. Zollo M, et al. Among authors: rajab a. Brain. 2017 Apr 1;140(4):940-952. doi: 10.1093/brain/awx014. Brain. 2017. PMID: 28334956 Free PMC article.
Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival.
Coulter ME, Musaev D, DeGennaro EM, Zhang X, Henke K, James KN, Smith RS, Hill RS, Partlow JN, Muna Al-Saffar, Kamumbu AS, Hatem N, Barkovich AJ, Aziza J, Chassaing N, Zaki MS, Sultan T, Burglen L, Rajab A, Al-Gazali L, Mochida GH, Harris MP, Gleeson JG, Walsh CA. Coulter ME, et al. Among authors: rajab a. Genet Med. 2020 Jun;22(6):1040-1050. doi: 10.1038/s41436-020-0758-9. Epub 2020 Feb 27. Genet Med. 2020. PMID: 32103185 Free PMC article.
Mutations in PYCR1 cause cutis laxa with progeroid features.
Reversade B, Escande-Beillard N, Dimopoulou A, Fischer B, Chng SC, Li Y, Shboul M, Tham PY, Kayserili H, Al-Gazali L, Shahwan M, Brancati F, Lee H, O'Connor BD, Schmidt-von Kegler M, Merriman B, Nelson SF, Masri A, Alkazaleh F, Guerra D, Ferrari P, Nanda A, Rajab A, Markie D, Gray M, Nelson J, Grix A, Sommer A, Savarirayan R, Janecke AR, Steichen E, Sillence D, Hausser I, Budde B, Nürnberg G, Nürnberg P, Seemann P, Kunkel D, Zambruno G, Dallapiccola B, Schuelke M, Robertson S, Hamamy H, Wollnik B, Van Maldergem L, Mundlos S, Kornak U. Reversade B, et al. Among authors: rajab a. Nat Genet. 2009 Sep;41(9):1016-21. doi: 10.1038/ng.413. Epub 2009 Aug 2. Nat Genet. 2009. PMID: 19648921
49 results